Are Mitochondria a Potential Target for Treating β-Thalassemia?

线粒体是治疗β-地中海贫血的潜在靶点吗?

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Abstract

The inherited genetic disorder β-thalassemia affects the hematopoietic system and is caused by the low production or absence of adult hemoglobin (HbA). Ineffective erythropoiesis is the hallmark of β-thalassemia pathophysiology and is characterized by an erythropoietin-driven substantial increase in erythroblast proliferation, coupled with an increase in late-stage precursor apoptosis, which results in low levels of circulating mature red blood cells (RBCs) and chronic anemia. Mitochondrial dysfunction commonly occurs in these cells because of the increased demand for energy production and the need to manage abnormal hemoglobin chain synthesis. Moreover, several studies have highlighted the importance of gradual mitochondrial clearance for mature erythroid cell production. This review offers an overview of the mitochondrial role in essential cellular processes, particularly those crucial for maintaining RBC health and function. Additionally, recent evidence regarding the contribution of mitochondrial dysfunction to the pathophysiology and severity of β-thalassemia is discussed, along with updated insights into indirect mitochondria-targeting treatments, which present potential pharmacological targets.

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